Variant report

Variant	rs1997715
Chromosome Location	chrX:57622607-57622608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1048358	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs1113635	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs1116848	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs1160711	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs12393264	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs12559310	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs12688558	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1367830	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs1431677	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs1594503	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs1594508	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1601317	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1601318	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs1835692	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1835698	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1864695	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1864697	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2060113	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs2116366	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2163537	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4319228	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4826349	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs4826550	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs4826551	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4826553	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs4826568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914100	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5914107	0.86[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs5914118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5915016	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs5915019	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5915027	0.87[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs5915052	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs5915082	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs5960270	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5960969	0.93[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap]
rs5960970	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs5960980	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6611626	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs7059676	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs717848	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs7885658	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7888674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519013	chrX:57405163-57928734	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2753356	chrX:57526389-58283218	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv522078	chrX:57559581-57928734	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57617600-57623200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chrX:57619200-57623400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:57619400-57625000	Weak transcription	Small Intestine	intestine
4	chrX:57619600-57622800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chrX:57619600-57623200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chrX:57619600-57623400	Enhancers	Adipose Nuclei	Adipose
7	chrX:57619800-57629600	Weak transcription	Left Ventricle	heart
8	chrX:57620000-57622800	Weak transcription	Fetal Stomach	stomach
9	chrX:57620000-57622800	Weak transcription	Stomach Mucosa	stomach
10	chrX:57620000-57623400	Weak transcription	Fetal Brain Male	brain
11	chrX:57620000-57623400	Weak transcription	Fetal Intestine Large	intestine
12	chrX:57620000-57623800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chrX:57620000-57624800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chrX:57620000-57625600	Weak transcription	Primary B cells from cord blood	blood
15	chrX:57620000-57627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chrX:57620400-57623600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chrX:57620600-57623200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chrX:57620600-57623600	Transcr. at gene 5' and 3'	Dnd41	blood
19	chrX:57620800-57622800	Enhancers	Primary T cells from cord blood	blood
20	chrX:57620800-57623000	Enhancers	Colon Smooth Muscle	Colon
21	chrX:57620800-57623200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chrX:57620800-57623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chrX:57620800-57623600	Active TSS	HepG2	liver
24	chrX:57620800-57624600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chrX:57620800-57626800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chrX:57621000-57622800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chrX:57621000-57623000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chrX:57621000-57623200	Active TSS	GM12878-XiMat	blood
29	chrX:57621000-57623400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chrX:57621000-57623800	Flanking Active TSS	HUVEC	blood vessel
31	chrX:57621200-57622800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chrX:57621200-57622800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chrX:57621200-57623000	Enhancers	Brain Substantia Nigra	brain
34	chrX:57621200-57623200	Active TSS	Fetal Brain Female	brain
35	chrX:57621200-57623200	Enhancers	Rectal Smooth Muscle	rectum
36	chrX:57621200-57623600	Active TSS	Brain Germinal Matrix	brain
37	chrX:57621400-57623200	Enhancers	Primary hematopoietic stem cells	blood
38	chrX:57621400-57623400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chrX:57621600-57623000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chrX:57621600-57623200	Active TSS	Right Atrium	heart
41	chrX:57621800-57622800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chrX:57621800-57622800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chrX:57621800-57622800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chrX:57621800-57622800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chrX:57621800-57623200	Active TSS	NHLF	lung
46	chrX:57621800-57623400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chrX:57621800-57623600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chrX:57621800-57623600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chrX:57622000-57622800	Weak transcription	Brain Angular Gyrus	brain
50	chrX:57622000-57622800	Active TSS	Skeletal Muscle Female	skeletal muscle

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